Sandhoff disease

Sandhoff disease
Other names	Sandhoff–Jatzkewitz disease, variant 0 of GM2-gangliosidosis or hexosaminidase A and B deficiency
Sandhoff disease is inherited via an autosomal recessive manner.
Specialty	Endocrinology

Sandhoff disease is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B.^[1][2] These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues,^[1] and some oligosaccharides. Accumulation of these metabolites leads to a progressive destruction of the central nervous system and eventually to death.^[1][3] The rare autosomal recessive^[4][5] neurodegenerative disorder is clinically almost indistinguishable from Tay–Sachs disease, another genetic disorder that disrupts beta-hexosaminidases A and S. There are three subsets of Sandhoff disease based on when first symptoms appear: classic infantile, juvenile and adult late onset.^{[citation needed]}